Challenges associated with diagnostic exome sequencing in liver diseases
Xiao‐Fei Kong, Kelsie Bogyo, Sheena Kapoor, Patrick R. Shea, Emily Groopman, Amanda Thomas‐Wilson, Enrico Cocchi, Hila Milo Rasouly, Beishi Zheng, Siming Sun, Junying Zhang, Mercedes Martínez, Jennifer Vittorio, Lorna M. Dove, Maddalena Marasà, , Julia J. Wattacheril
This study evaluates exome sequencing in liver diseases, finding a 5.7% diagnostic rate for monogenic disorders after filtering and manual review.
Scientific Reports · Dec 6, 2023Peer-reviewedGenetic & Genomic Medicine